Incidental Mutation 'R4537:Gm14412'
| ID |
333358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14412
|
| Ensembl Gene |
ENSMUSG00000078868 |
| Gene Name |
predicted gene 14412 |
| Synonyms |
|
| MMRRC Submission |
041774-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.634)
|
| Stock # |
R4537 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
177006313-177016100 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 177006352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 514
(K514N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108959]
|
| AlphaFold |
A2ARR7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108959
AA Change: K514N
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104587
Gene: ENSMUSG00000078868
AA Change: K514N
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
1.54e-15 |
SMART |
|
ZnF_C2H2
|
103 |
125 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
131 |
153 |
2.15e-5 |
SMART |
|
ZnF_C2H2
|
159 |
181 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
187 |
209 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
215 |
237 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
271 |
293 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
299 |
321 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
327 |
349 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
383 |
405 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
411 |
433 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
467 |
489 |
4.61e-5 |
SMART |
|
ZnF_C2H2
|
495 |
517 |
8.02e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
T |
A |
13: 14,294,746 (GRCm39) |
Y9* |
probably null |
Het |
| Aspm |
T |
C |
1: 139,402,041 (GRCm39) |
I1235T |
probably benign |
Het |
| Defb30 |
T |
C |
14: 63,273,525 (GRCm39) |
I29M |
probably damaging |
Het |
| Dnajc13 |
CT |
C |
9: 104,064,004 (GRCm39) |
|
probably benign |
Het |
| Dpy19l3 |
T |
C |
7: 35,411,326 (GRCm39) |
T428A |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,399,424 (GRCm39) |
T560A |
probably benign |
Het |
| Fnip2 |
A |
G |
3: 79,373,021 (GRCm39) |
V1019A |
probably damaging |
Het |
| Fus |
A |
G |
7: 127,575,087 (GRCm39) |
D268G |
probably damaging |
Het |
| Gphn |
T |
C |
12: 78,540,788 (GRCm39) |
L265P |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,562,083 (GRCm39) |
M589T |
probably benign |
Het |
| Hoxa1 |
G |
T |
6: 52,134,973 (GRCm39) |
Q77K |
probably benign |
Het |
| Ighv14-2 |
A |
G |
12: 113,958,512 (GRCm39) |
C3R |
probably benign |
Het |
| Itgb2 |
G |
A |
10: 77,397,050 (GRCm39) |
|
probably null |
Het |
| Mrpl24 |
A |
C |
3: 87,829,719 (GRCm39) |
K102Q |
probably benign |
Het |
| Ogfod2 |
C |
T |
5: 124,252,591 (GRCm39) |
|
probably benign |
Het |
| Olig2 |
A |
G |
16: 91,023,732 (GRCm39) |
I149V |
probably damaging |
Het |
| Or10g9 |
T |
A |
9: 39,911,616 (GRCm39) |
K302N |
probably benign |
Het |
| Or56a3b |
T |
A |
7: 104,776,227 (GRCm39) |
I84F |
probably damaging |
Het |
| Or7g19 |
T |
A |
9: 18,856,526 (GRCm39) |
I194N |
possibly damaging |
Het |
| Oxr1 |
A |
G |
15: 41,683,915 (GRCm39) |
Q515R |
possibly damaging |
Het |
| Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
| Slc25a12 |
T |
A |
2: 71,105,450 (GRCm39) |
|
probably benign |
Het |
| Slc2a3 |
C |
A |
6: 122,714,063 (GRCm39) |
G157V |
probably damaging |
Het |
| Slc5a4a |
C |
T |
10: 76,013,929 (GRCm39) |
R379* |
probably null |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Sprr2f |
A |
T |
3: 92,273,366 (GRCm39) |
Q55L |
unknown |
Het |
| Srd5a3 |
G |
A |
5: 76,297,798 (GRCm39) |
|
probably null |
Het |
| Tmtc1 |
C |
T |
6: 148,164,280 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tob1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
11: 94,105,278 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
| Uspl1 |
A |
G |
5: 149,124,588 (GRCm39) |
T2A |
possibly damaging |
Het |
| Vmn2r87 |
T |
G |
10: 130,308,054 (GRCm39) |
H728P |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,194 (GRCm39) |
M284K |
possibly damaging |
Het |
| Zfp101 |
T |
A |
17: 33,601,466 (GRCm39) |
M59L |
possibly damaging |
Het |
| Zfp558 |
T |
C |
9: 18,368,798 (GRCm39) |
E146G |
probably null |
Het |
|
| Other mutations in Gm14412 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Gm14412
|
APN |
2 |
177,007,479 (GRCm39) |
missense |
probably benign |
|
|
R0124:Gm14412
|
UTSW |
2 |
177,007,705 (GRCm39) |
splice site |
probably benign |
|
|
R0507:Gm14412
|
UTSW |
2 |
177,006,325 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1833:Gm14412
|
UTSW |
2 |
177,007,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1908:Gm14412
|
UTSW |
2 |
177,007,630 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1908:Gm14412
|
UTSW |
2 |
177,007,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2026:Gm14412
|
UTSW |
2 |
177,008,898 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2209:Gm14412
|
UTSW |
2 |
177,009,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2656:Gm14412
|
UTSW |
2 |
177,006,993 (GRCm39) |
missense |
unknown |
|
|
R3946:Gm14412
|
UTSW |
2 |
177,006,478 (GRCm39) |
nonsense |
probably null |
|
|
R4430:Gm14412
|
UTSW |
2 |
177,007,625 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4595:Gm14412
|
UTSW |
2 |
177,007,005 (GRCm39) |
missense |
unknown |
|
|
R4928:Gm14412
|
UTSW |
2 |
177,006,373 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5100:Gm14412
|
UTSW |
2 |
177,006,908 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5434:Gm14412
|
UTSW |
2 |
177,006,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5668:Gm14412
|
UTSW |
2 |
177,007,402 (GRCm39) |
nonsense |
probably null |
|
|
R6173:Gm14412
|
UTSW |
2 |
177,006,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6558:Gm14412
|
UTSW |
2 |
177,006,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6784:Gm14412
|
UTSW |
2 |
177,009,133 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7094:Gm14412
|
UTSW |
2 |
177,009,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Gm14412
|
UTSW |
2 |
177,007,408 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7254:Gm14412
|
UTSW |
2 |
177,009,189 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7793:Gm14412
|
UTSW |
2 |
177,007,660 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7799:Gm14412
|
UTSW |
2 |
177,007,590 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8238:Gm14412
|
UTSW |
2 |
177,007,111 (GRCm39) |
missense |
unknown |
|
|
R9098:Gm14412
|
UTSW |
2 |
177,006,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9304:Gm14412
|
UTSW |
2 |
177,007,547 (GRCm39) |
missense |
probably benign |
|
|
R9699:Gm14412
|
UTSW |
2 |
177,007,636 (GRCm39) |
nonsense |
probably null |
|
|
RF001:Gm14412
|
UTSW |
2 |
177,008,894 (GRCm39) |
missense |
probably benign |
0.04 |
|
RF007:Gm14412
|
UTSW |
2 |
177,007,494 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGGTCAATGCTTGCTGC -3'
(R):5'- GCAGTCATCTCCGAATACATAAGC -3'
Sequencing Primer
(F):5'- GCTTGCTGCAAAGGCTTTATAAC -3'
(R):5'- TACATAAGCGAACACATACAGGAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation